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Nat Rev Nephrol. 2019 May 22. doi: 10.1038/s41581-019-0155-2. [Epub ahead of print]

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.

Author information

1
Division of Pediatric Nephrology, Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany. charlotte.gimpel@uniklinik-freiburg.de.
2
Department of Medicine IV, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
3
Center for Human Genetics, Bioscientia, Ingelheim, Germany.
4
University College London, Great Ormond Street Hospital, Institute of Child Health, London, UK.
5
Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium.
6
Rocky Mountain Pediatric Kidney Center, Rocky Mountain Hospital for Children at Presbyterian St Luke's Medical Center, Denver, CO, USA.
7
Department of Pediatrics II, University Hospital Essen, Essen, Germany.
8
Renal Department, Bristol Royal Hospital for Children, Bristol, UK.
9
Division of Nephrology and Dialysis, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy.
10
Department of General Pediatrics, University Children's Hospital, Münster, Germany.
11
PKD International, Geneva, Switzerland.
12
PKD Charity, London, UK.
13
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.
14
Department of Pediatrics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
15
Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium.
16
PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium.
17
Faculty of Health and Wellbeing, Sheffield Hallam University, Sheffield, UK.
18
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
19
Division of Nephrology, Department of Medicine, Tufts Medical Center, Boston, MA, USA.
20
Kings College London, Department of Paediatric Nephrology, Evelina London Children's Hospital, London, UK.
21
Department of Nephrology, University of Barcelona, Barcelona, Spain.
22
Department of Pediatrics, University of Marburg, Marburg, Germany.
23
Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany.

Abstract

These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by the International Pediatric Nephrology Association (IPNA) and the European Society of Paediatric Nephrology (ESPN). For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children.

PMID:
31118499
DOI:
10.1038/s41581-019-0155-2

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